Variant report

Variant	rs17109203
Chromosome Location	chr14:39872166-39872167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11844337	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs57243783	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59857298	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7140854	1.00[MEX][hapmap]
rs7147617	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7148660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7149131	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs7153086	0.80[ASW][hapmap]
rs73287557	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287570	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8017394	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9322999	1.00[ASW][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17109203	FBXO33	cis	lymphoblastoid	seeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
2	chr14:39835400-39872400	Weak transcription	Fetal Muscle Leg	muscle
3	chr14:39836200-39872800	Weak transcription	Esophagus	oesophagus
4	chr14:39840000-39882600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:39846200-39878800	Weak transcription	Right Ventricle	heart
6	chr14:39846800-39872400	Weak transcription	HSMMtube	muscle
7	chr14:39853600-39874200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:39854400-39872600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:39860200-39882200	Weak transcription	Fetal Heart	heart
10	chr14:39861200-39872200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:39861400-39874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:39862000-39886000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:39862400-39874800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:39863200-39873000	Weak transcription	Lung	lung
15	chr14:39863400-39874000	Weak transcription	Fetal Lung	lung
16	chr14:39863400-39891600	Weak transcription	Small Intestine	intestine
17	chr14:39863800-39872600	Weak transcription	Spleen	Spleen
18	chr14:39864600-39898800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:39865000-39872600	Weak transcription	NHLF	lung
20	chr14:39865000-39891200	Weak transcription	Psoas Muscle	Psoas
21	chr14:39865000-39898200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:39865200-39872200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:39865200-39872200	Weak transcription	HUVEC	blood vessel
24	chr14:39865200-39872600	Weak transcription	NHEK	skin
25	chr14:39865200-39878800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:39867200-39872800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:39867400-39874200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:39867800-39875600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:39868000-39872200	Weak transcription	Fetal Intestine Small	intestine
30	chr14:39868000-39883400	Weak transcription	Thymus	Thymus
31	chr14:39868400-39873400	Weak transcription	Fetal Brain Female	brain
32	chr14:39869000-39872200	Weak transcription	Osteobl	bone
33	chr14:39869000-39872400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:39869000-39872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:39869000-39872400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:39869000-39872400	Weak transcription	Fetal Stomach	stomach
37	chr14:39869000-39872800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:39869000-39873800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:39869000-39874400	Weak transcription	Pancreas	Pancrea
40	chr14:39869000-39876000	Weak transcription	A549	lung
41	chr14:39869000-39879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:39869000-39879800	Weak transcription	Fetal Kidney	kidney
43	chr14:39869000-39883800	Weak transcription	Left Ventricle	heart
44	chr14:39869000-39886200	Weak transcription	Aorta	Aorta
45	chr14:39869000-39886200	Weak transcription	Ovary	ovary
46	chr14:39869000-39895600	Weak transcription	Hela-S3	cervix
47	chr14:39869200-39872200	Weak transcription	Brain Anterior Caudate	brain
48	chr14:39869200-39872400	Weak transcription	Brain Hippocampus Middle	brain
49	chr14:39869200-39872400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:39869200-39872400	Weak transcription	Fetal Intestine Large	intestine

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